NEWBORN SCREENING FOR PHENYLKETONURIA IN 11 DISTRICTS

Newborn screening for phenylketonuria (PKU) shows significant progress in genetics and has greatly contributed to the prevention of mental retardation in many countries. A collaborative screening program was organized for the first time in our country in March 1982. Guthrie''s bacterial inhibition assay was used for determining blood levels of phenylalanine (Phe). Up to January 1985, a total 198,320 newborns were screened. Classical PKU was detected in 10 infants and hyperphenylalaninemia in two. The overall incidence was 1/16,500, which was about the same as that in many other countries. There was an obvious uneven distribution of cases in different areas of our country. Five of the 10 cases of classical PKU were treated with low-Phe milk and developed normally. The remaining 5 cases were on low protein diet, but 3 became mentally retarded. Our preliminary work showed the importance of instituting a mass screening laboratory which is a prerequisite for successful development of the program.